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Epb4.9 Gene Detail
 Symbol
Name
ID
Epb4.9
erythrocyte protein band 4.9
MGI:99670


Nomenclature History
Synonyms dematin
Genetic Map
Chromosome 14
38.0 cM
Detailed Genetic Map ± 1 cM
 
Mapping data( 8)

Sequence Map
Chr14:71003477-71029961 bp, - strand
(From NCBI annotation of NCBI Build 37)
Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; chimpanzee; dog, domestic; rat    (Mammalian Orthology)
Comparative Map (Mouse/Human Epb4.9 ± 2 cM)
Protein SuperFamily: dematin
TreeFam: TF318042
Sequences
Representative Sequences Length Strain/Species Flank
genomic 13829 NCBI Gene Model | MGI Sequence Detail 26485 C57BL/6J ± Kb
transcript NM_013514 RefSeq | MGI Sequence Detail 2643 C57BL/6
polypeptide Q9WV69 UniProt | EBI | MGI Sequence Detail 405 Not Applicable
For the selected sequences
All sequences(40)
Alleles
and
phenotypes
All alleles(142) : Targeted, knock-out(1) Gene trapped(141)
Mice homozygous for a targeted mutation display mild anemia and spherocytosis. Mutant erythrocytes are osmotically fragile and show reduced deformability and filterability as well as increased membrane fragmentation and selective loss of spectrin and actin from RBC membrane skeletons and vesicles.
Polymorphisms RFLP(1) SNPs within 2kb(186 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications: (7 annotations)
Process actin filament capping, cytoskeleton organization...
Component cortical cytoskeleton, cytoplasm...
Function actin binding
External Resources: FuncBase
Expression Literature Summary: (2 records)
cDNA source data(13)
External Resources: GENSAT  GEO  ArrayExpress 
Molecular
reagents
All nucleic(14) cDNA(14)
Microarray probesets(2)
Other database
links
Ensembl Gene Model ENSMUSG00000022099
DoTS DT.101370837, DT.101388029, DT.101388030, DT.488525, DT.91563290, DT.94124384, DT.97381166, DT.99863675
Consensus CDS Project CCDS27259.1
DFCI TC1577143, TC1588421, TC1592978, TC1608655, TC1624083
NIA Mouse Gene Index U035751, U094031
Entrez Gene 13829
International Mouse Knockout Project Status Epb4.9
Protein
domains
InterPro ID Description
IPR003128 Villin headpiece
Graphical View of Protein Domain Structure
References
(Earliest) J:25233 Peters LL et al., "The gene encoding the erythrocyte membrane skeleton protein dematin (Epb4.9) maps to mouse chromosome 14." Genomics 1995 Apr 10;26(3):634-5
(Latest) J:138919 Robledo RF et al., "Targeted deletion of alpha-adducin results in absent beta- and gamma-adducin, compensated hemolytic anemia, and lethal hydrocephalus in mice." Blood 2008 Nov 15;112(10):4298-307
All references(19)
Other
accession IDs
MGD-MRK-16455, MGI:2145622

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
02/06/2010
MGI_4.32
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